Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1169305
rs1169305
2 1.000 0.040 12 120999579 missense variant A/G snv 1.00 0.99 0.020 1.000 2 2000 2002
dbSNP: rs1013773109
rs1013773109
2 1.000 0.040 2 164497436 missense variant T/C snv 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs1036915
rs1036915
2 1.000 0.040 9 84822934 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1042488900
rs1042488900
2 1.000 0.040 1 161802188 synonymous variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1042615
rs1042615
2 1.000 0.040 12 63150429 missense variant A/C;G;T snv 0.60; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs10484821
rs10484821
2 1.000 0.040 6 139547773 intron variant T/C snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs10497721
rs10497721
2 1.000 0.040 2 192049636 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1060366
rs1060366
2 1.000 0.040 1 116384040 synonymous variant A/G snv 1.3E-03 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs10747983
rs10747983
2 1.000 0.040 12 63144678 3 prime UTR variant G/A snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs10818684
rs10818684
2 1.000 0.040 9 122407651 intron variant C/T snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs11574
rs11574
ID3
2 1.000 0.040 1 23559007 missense variant T/A;C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs118081497
rs118081497
2 1.000 0.040 12 92782070 missense variant A/T snv 1.1E-02 3.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs1187274
rs1187274
2 1.000 0.040 9 84804874 intron variant C/G snv 0.55 0.010 1.000 1 2015 2015
dbSNP: rs1206634
rs1206634
2 1.000 0.040 X 96302380 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1236009270
rs1236009270
2 1.000 0.040 16 10977321 synonymous variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1240512008
rs1240512008
2 1.000 0.040 20 44413780 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs1260236
rs1260236
2 1.000 0.040 9 6023030 intergenic variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1282596664
rs1282596664
2 1.000 0.040 17 37731616 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12910524
rs12910524
2 1.000 0.040 15 101262360 intergenic variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1309065326
rs1309065326
2 1.000 0.040 20 38141383 missense variant T/C snv 5.4E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs13427836
rs13427836
2 1.000 0.040 2 128270387 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs1388926124
rs1388926124
2 1.000 0.040 12 120978862 missense variant G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1406167595
rs1406167595
2 1.000 0.040 5 134114958 missense variant G/A snv 1.5E-05 0.010 1.000 1 2000 2000
dbSNP: rs142318174
rs142318174
2 1.000 0.040 12 120978923 missense variant G/C snv 2.0E-04 8.1E-04 0.010 1.000 1 2000 2000
dbSNP: rs143517122
rs143517122
2 1.000 0.040 13 27924267 missense variant G/A;T snv 2.1E-04; 4.2E-06 0.010 1.000 1 2000 2000